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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

G6PD Gene

protein-coding GIFtS: 69
GCID: GC0XM153759

glucose-6-phosphate dehydrogenase

Explore 198 diseases affiliated with
G6PD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glucose-6-Phosphate Dehydrogenase¹ ²
G6PD1¹ ² ⁵
EC 1.1.1.49³ ⁸
Glucose-6-Phosphate 1-Dehydrogenase²
Glucose-6-Phosphate Dehydrogenase, G6PD²

External Ids:	HGNC: 4057¹	Entrez Gene: 2539²	Ensembl: ENSG00000160211⁷	OMIM: 305900⁵	UniProtKB: P11413³

Export aliases for G6PD gene to outside databases

Previous GC identifers: GC0XM147822 GC0XM150140 GC0XM151344 GC0XM152227 GC0XM153323 GC0XM153412 GC0XM142336

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for G6PD:

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping

X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents

and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly

produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated

clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic

hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Function: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power

Gene Wiki entry for G6PD (Glucose-6-phosphate dehydrogenase)

PharmGKB "VIP" summary for G6PD

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167198.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the G6PD gene promoter:
TBP p53 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): G6PD promoter sequence

Search SABiosciences Chromatin IP Primers for G6PD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat G6PD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

G6PD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G6PD gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM153759: view genomic region (about GC identifiers)

Start:	153,759,606 bp from pter	End:	153,775,787 bp from pter
Size:	16,182 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413 (See protein sequence)

Recommended Name: Glucose-6-phosphate 1-dehydrogenase

Size: 515 amino acids; 59257 Da

Subunit: Homodimer or homotetramer

Miscellaneous: Has NADP both as cofactor (bound to the N-terminal domain) and as structural element bound to the

C-terminal domain

Sequence caution: Sequence=AAA63175.1; Type=Erroneous initiation;

3 PDB 3D structures from and Proteopedia for G6PD:

1QKI (3D)

2BH9 (3D)

2BHL (3D)

Secondary accessions: D3DWX9 Q16000 Q16765 Q8IU70 Q8IU88 Q8IUA6 Q96PQ2

Alternative splicing: 3 isoforms: P11413-1 P11413-2 P11413-3 (Contains a phosphoserine at position 26)

Explore the universe of human proteins at neXtProt for G6PD: NX_P11413

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11413

4/28 DME Specific Peptides for G6PD (P11413) (see all 28)

PDAYERL

GRGGYFD

QIYRIDH

IFTPLLH

G6PD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000393.4 NP_001035810.1

ENSEMBL proteins:

ENSP00000377192 ENSP00000377194 ENSP00000358633 ENSP00000395599 ENSP00000400648

ENSP00000394690 ENSP00000291567

Reactome Protein details: P11413
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Uscn Proteins for G6PD

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0005813	centrosome	IDA	--
GO:0005829	cytosol	TAS	--
GO:0009898	internal side of plasma membrane	IDA	743300

G6PD for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for G6PD

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

G6PD for domains About GeneDecksing

5 InterPro domains/families:

IPR019796 G6P_DH_AS

IPR022675 G6P_DH_C

IPR001282 G6P_DH

IPR022674 G6P_DH_NAD-bd

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P11413

ProtoNet protein and cluster: P11413

1 Blocks protein family: IPB001282 Glucose-6-phosphate dehydrogenase

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Similarity: Belongs to the glucose-6-phosphate dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Function: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power

Catalytic activity: D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + NADPH

Genatlas biochemistry entry for G6PD:

glucose-6-phosphate dehydrogenase,dimer,or tetramer of a 59.3kDa subunit,cytosolic,ubiquitously expressed,first step of

pentose phosphate,pathway mainly involved in the defense against oxidizing agents through NADPH production,pentose

phosphate pathway

Enzyme Number (IUBMB): EC 1.1.1.49¹ ²

miRNA Products:		miRTarBase miRNAs that target G6PD: hsa-mir-1 (MIRT002956)

		OriGene 3'-UTR Clone (see all 2): G6PD Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat G6PD
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate G6PD:
		hsa-miR-206 hsa-miR-1237 hsa-miR-3915 hsa-miR-1207-5p hsa-miR-1 hsa-miR-613
		SwitchGear 3'UTR luciferase reporter plasmid: G6PD 3' UTR sequence

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Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for G6PD
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PD

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004345	glucose-6-phosphate dehydrogenase activity	IMP	5643703
GO:0005536	glucose binding	IMP	5643703
GO:0042803	protein homodimerization activity	IPI	15858258
GO:0050661	NADP binding	IDA	15858258

G6PD for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out G6pdx^tm1Luz for G6PD
     10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for G6pdx):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	mortality/aging	nervous system	normal

G6PD for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Pentose phosphate pathway (hexose monophosphate shunt)

	Pentose phosphate pathway (hexose monophosphate shunt)	1.00			pentose phosphate pathway	0.67
	Pentose Phosphate Pathway	0.88

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Pentose Phosphate Pathway (Erythrocyte)

Pentose Phosphate Pathway (Erythrocyte)

1.00

pentose phosphate pathway (oxidative branch)

0.60

Glutathione metabolism

Glutathione metabolism

0.70

Glutathione metabolism

0.44

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for G6PD

Glucose / Energy Metabolism

5 BioSystems Pathways for G6PD

	Sulfation Biotransformation Reaction
	pentose phosphate pathway (oxidative branch)
	Glutathione metabolism
	pentose phosphate pathway
	Pentose Phosphate Pathway

3 Reactome Pathways for G6PD

	Metabolism of carbohydrates
	Pentose phosphate pathway (hexose monophosphate shunt)
	Metabolism

2 PharmGKB Pathways for G6PD

	Methylene Blue Pathway, Pharmacodynamics
	Pentose Phosphate Pathway (Erythrocyte)

3 Kegg Pathways (Kegg details for G6PD):

	Pentose phosphate pathway
	Glutathione metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate

(oxidative stage): step 1/3

G6PD for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for G6PD

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/46 Interacting proteins for G6PD (P11413^{2, 3} ENSP00000377192⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPB1	P04792²^,³, ENSP00000248553⁴	MINT-8142253 MINT-8142240 I2D: score=2 STRING: ENSP00000248553
GPI	P06744³, ENSP00000348877⁴	I2D: score=1 STRING: ENSP00000348877
MRE11A	P49959³, ENSP00000325863⁴	I2D: score=1 STRING: ENSP00000325863
PGLS	O95336³, ENSP00000252603⁴	I2D: score=1 STRING: ENSP00000252603
SLC25A1	P53007³, ENSP00000215882⁴	I2D: score=1 STRING: ENSP00000215882

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001816	cytokine production	IMP	17361089
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006006	glucose metabolic process	--	--
GO:0006098	pentose-phosphate shunt	TAS	--
GO:0006629	lipid metabolic process	TAS	17361089

G6PD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

G6PD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for G6PD

8 HMDB Compounds for G6PD About this table

Compound	Synonyms	CAS #	PubMed Ids
6-Phosphonoglucono-D-lactone	6-(dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone (see all 13)	2641-81-8	--
Beta-D-Glucose 6-phosphate	beta-D-glucose 6-(dihydrogen phosphate) (see all 3)	--	--
Gluconolactone	1,5-Gluconolactone (see all 35)	90-80-2	--
Glucose 6-phosphate	D(+)-Glucopyranose 6-phosphate (see all 11)	56-73-5	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Phenol	acide carbolique (see all 51)	108-95-2	--
Pyridoxal 5'-phosphate	Apolon B6 (see all 27)	54-47-7	--

2 DrugBank Compounds for G6PD About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423
Hydroxyacetic Acid	--	79-14-1	target	--	17139284 17016423

10/149 Novoseek chemical compound relationships for G6PD gene (see all 149) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate	99.1	3680	8790979 (6), 12902098 (6), 12438773 (6), 12476860 (6) (see all 99)
6-phosphogluconate	86	89	8790979 (4), 8955144 (2), 1637668 (2), 7875715 (2) (see all 56)
primaquine	81.1	80	1986741 (4), 15330059 (3), 8036681 (3), 16968914 (3) (see all 33)
nadph	78.1	216	14614139 (4), 17675065 (4), 2297768 (3), 2269430 (3) (see all 99)
nadp+	74.8	64	16934959 (3), 15858258 (3), 14980702 (2), 2403336 (2) (see all 33)
neotetrazolium	66.7	4	7930518 (1), 10582692 (1), 9306960 (1)
2',5'-adp	64.4	4	15003259 (1), 12696635 (1), 11237690 (1), 14704475 (1)
superoxide	62.7	136	17675065 (4), 8899868 (3), 14973180 (2), 10395749 (2) (see all 99)
o-ethylhydroxylamine	62.3	1	10087986 (1)
pyruvate	61.3	80	1434530 (4), 2168088 (2), 2049468 (2), 8869370 (2) (see all 57)

10/21 PharmGKB related drug/compound annotations for G6PD gene (see all 21)

Drug/compound	PharmGKB Annotation
artesunate	CA
chloroquine	DL
chlorproguanil	CA
dapsone	CA DL
glibenclamide	DL
methylene blue	DL
nalidixic acid	DL
nitrofurantoin	DL
norfloxacin	DL
pegloticase	DL

About this table

Search CenterWatch for drugs/clinical trials and news about G6PD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for G6PD gene (2 alternative transcripts):

NM_000402.3 NM_001042351.1

Unigene Clusters for G6PD:

Glucose-6-phosphate dehydrogenase

Hs.461047 [show with all ESTs], Hs.684904

Unigene Representative Sequences: X03674, M19866

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000393562(uc004flx.1 uc004fly.1) ENST00000393564 ENST00000369620

ENST00000490651 ENST00000439227 ENST00000440967 ENST00000489497 ENST00000433845

ENST00000497281 ENST00000488434 ENST00000291567

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		hsa-miR-206 hsa-miR-1237 hsa-miR-3915 hsa-miR-1207-5p hsa-miR-1 hsa-miR-613
		SwitchGear 3'UTR luciferase reporter plasmid: G6PD 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat G6PD

Additional cDNA sequence: M19866.1

22 DOTS entries:

DT.217832 DT.121293712 DT.100886708 DT.100886711 DT.97760191 DT.95181123 DT.91651365 DT.95181033

DT.99948311 DT.100886676 DT.100886712 DT.121294781 DT.92459873 DT.100886703 DT.121293725 DT.95181124

DT.100886697 DT.121293821 DT.121294265 DT.80100454 DT.95181111 DT.95181122

494 AceView cDNA sequences (see top 24):

BP430717 BQ889036 BM927074 BF219760 BU542588 F12517 BU535590 BX452494

BU859640 CA429090 BE894869 BQ958647 BQ053958 CD370360 BE464610 BQ923413

BU543660 CF272496 BE206245 BI828042 CA423352 BU944743 BM554297 BC000337

AL043503 BG740654 BU189943 CN483145 BI829464 BU956565 BQ925382 BU944646

CN485198 BQ954497 BM045780 BE264631 BI090613 BQ673837 CR624380 BM916963

CA487496 BQ330502 BE619521 BF374868 BU187300 BQ109418 BE927022 BU622111

AL546240 BQ955025 BQ941900 AL043323 BM824963 CF144475 F07572 BQ924770

CR606589 AA311501 BI333724 BQ052829 CB107414 CD364783 BU557997 BM988519

BM824962 BI836599 BE276689 BQ952738 CD251772 BM799162 BU956865 BE729283

CA396239 BQ218137 BM480212 BQ052923 BM823725 CD369349 BP336907 BM909701

BU860318 BM710219 BP356172 BI829519 BU175422 CA422772 BQ934527 BM048129

BQ073173 CD366517 BM153536 BG252525 BM827197 AL527352 AL546361 BG287979

CA488022 BQ935766 BM676989 BM475085 BQ441698 BG398218 AW842162 BQ920837

CD364680 BG331675 BG469931 BE410468 BE548380 BU736346 BE207241 BM462207

BF663287 BQ919599 BM791148 BE778041 BQ213791 CA412173 AA325062 AA731848

BI334925 BG741546 BG248236 S58359 AA557154 BG327069 BE909184 BG437540

M27940 BG675121 AL530408 BP354326 BI461274 BI518856 BE242110 BI823887

BG576177 BU944527 BM663057 BQ772986 BQ227659 BG775252 BM049312 BQ053436

F11054 BE869630 BM759253 BG747004 BV204214 BF207034 BE867550 AL514942

BG248373 BQ944028 CN481041 AL556150 BU540437 AW081804 BG331618 CA420285

BG326662 BE871126 CA489139 BG718997 BF970080 X03674 BG387128 BM693551

BQ220678 BG743129 BG254260 AL560686 CA422386 BU957145 BE902991 BU902073

BQ017992 CA307095 BE243955 BQ226952 BG342082 BM146793 BE884209 BP337605

BM453395 BM925155 BF791957 BE244478 BG490422 BQ944019 BQ278793 BQ216489

AL530407 AA213449 BG832230 BG771599 AL582099 AL560471 BQ958970 BE617124

BG314939 BE280160 AL551387 AI052144 BE894852 BE730911 BE245050 BG755290

BF568646 BG490460 AL551425 AL570001 BU944065 BM794545 BM145646 BG743989

BF003031 AI612887 CA422093 NM_000402 BF115638 BI827883 BE736855 BI667679

BG491152 BQ016355 AI699900 AI611632 BU858225 BQ935312 BE548025 BM046512

BE790356 AI969157 BQ217684 BM720899 N51393 BG490404 BQ934742 BI520512

BG331004 BE549864 BM810321 BG390122 BV184316 BP366089 BM670992 CF132379

BQ302885 CA309363 BU955948 BV183304 AW117491 BI826092 AL567796 BQ229911

CF139386 AL539344 BI826255 BG478481 BG473588 BI862467 AA633005 BX283571

BM917953 BE262862 AL043502 BM424036 BG325193 BM888494 CA309223 BU542727

AW247067 BU732771 AL578469 CA417178 BU502483 BE733347 BX400451 AW468102

BG421047 CA312857 BQ954806 M21248 AW054775 CF144392 BU955969 CA419747

CD243465 BG822539 BQ072877 AW468112 AA781391 N53804 BP350910 BE389772

AA418076 AA418222 R88444 W52534 CA412218 AA063175 AL581913 BU158669

BG332496 BM146726 BG056069 BE890533 BG436864 AW085762 AL564375 BU957167

AI401512 BP356211 BM148047 BM917515 AL563738 BE241905 BI194447 AA058849

BX472830 AI990346 AW303612 BM046264 BI091918 BM710737 BM793672 AL571726

N51967 BF893496 BQ943836 BE388085 BM046641 AI242254 BI912207 AW469720

BF183241 R88500 AW874583 BG874949 AW615700 AW237248 BI459753 AW873491

BG390140 BG482268 AL569986 BG327773 BE868718 CB116015 BI116301 AL530406

BE409866 AI685557 BG696959 BI906077 BQ330828 BI257435 CF144310 BE734590

CD514889 BM193967 BG117347 BQ322670 AL532398 BU729738 CF142422 BM888305

CA433150 BG333750 BI008569 R43167 BE537144 BI520272 AI380158 AI824217

AI933270 AI961837 BM147649 BQ302176 BQ227127 BQ302883 AA743672 BE897856

BG477425 BE673257 AA310683 AI700056 BM146494 BG874953 BG491094 BP355812

BM843195 AW594612 BE938309 BQ330426 BQ330831 BQ378236 BE871389 BF507955

BQ432984 BQ348923 BU558136 BG875186 AL580806 BG437987 AA557155 BQ877114

AI567236 BQ302780 BM904919 BE536222 BQ344500 BG398042 BM799127 AW967010

BM560170 BI023562 BQ931472 M12996 BE788662 BQ310760 AW975742 AA765508

BM703406 AW960989 BM915998 BX333172 BG327752 BG249159 BM152584 BU543178

BQ330452 BQ329054 R84464 BI917272 AI200847 AI218209 AA017135 BF852679

BX382465 BG831554 BM193282 CB994713 BG744679 BQ349875 H41021 AI424036

BE785865 BQ310758 AI905855 BG331129 BM145043 BE076161 BM913749 AA887634

T80796 T28948 AA609280 BQ334469 BQ441798 AL562880 BF027344 T81200

BE075772 T74002 CB998030 AW081430 BX400450 BM688674 AA860268 BQ374512

BU589629 AA586730 AA213782 AI560304 R20114 AA161111 T87211 BE274301

AA063289 AW951004 AA721456 BF931104 BU150684 AL580197 CF144773 AI539217

AA017362 BI023431 AI453466 AL546387 BF869476 BU538246

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for G6PD (see all 8) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14a	·	14b
SP1:
SP2:					-
SP3:					-
SP4:
SP5:

ECgene alternative splicing isoforms for G6PD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

G6PD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTTGAACC

About this image

G6PD expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See G6PD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for G6PD

SOURCE GeneReport for Unigene clusters: Hs.461047 Hs.684904

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Tissue specificity: Isoform Long is found in lymphoblasts, granulocytes and sperm

SABiosciences Expression via Pathway-Focused PCR Arrays including G6PD (see all 6):

Nephrotoxicity in human mouse rat

Estrogen Receptor Signaling in human mouse rat

Cancer PathwayFinder in human mouse rat

Fatty Liver in human mouse rat

Diabetes in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for G6PD gene from 10/41 species (see all 41) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	G6pdx^{1 , 5}	glucose-6-phosphate dehydrogenase X-linked^{1, 5}	87.38(n)¹ 93.79(a)¹		X (38.00 cM)⁵ 14381¹ NM_008062.2¹ NP_032088.1¹ 74409483⁵
lizard (Anolis carolinensis)	Reptilia	G6PD⁶	--	85(a)	1 ↔ 1	2(89700934-89712289)
African clawed frog (Xenopus laevis)	Amphibia	BC059324.1²	--	75.59(n)		BC059324.1
zebrafish (Danio rerio)	Actinopterygii	g6pd¹	glucose-6-phosphate dehydrogenase	69.62(n) 76.3(a)		570579 XM_694076.5 XP_699168.3
fruit fly (Drosophila melanogaster)	Insecta	Zw^{1 , 3}	pentose-phosphate shunt glucose-6-phosphate 1-dehydrogenase³ Zwischenferment¹	65(a) (best of 2)³ 68.76(n)¹ 65.18(a)¹		1 18D13³ 32974¹ NM_078687.1¹ NP_523411.1¹
worm (Caenorhabditis elegans)	Secernentea	B0035.5³ gspd-1¹	glucose-6-phosphate-1-dehydrogenase³ Protein GSPD-1¹	60(a)³ 58.49(n)¹ 61.75(a)¹		IV(11317595-11319951)³ 178046¹ NM_069728.3¹ NP_502129.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ZWF1¹	Zwf1p	54.68(n) 49.79(a)		855480 NP_014158.1
thale cress (Arabidopsis thaliana)	eudicotyledons	G6PD6¹	glucose-6-phosphate dehydrogenase 6	55.03(n) 56.1(a)		834076 NM_123441.2 NP_198892.1
rice (Oryza sativa)	Liliopsida	AK100545.1²	--	73.15(n)		AK100545.1
E. coli (Escherichia coli)	Gamma proteobacteria	zwf⁶	glucose-6-phosphate 1-dehydrogenase	34(a)	1 → many	Chromosome(1932863-1934338)

ENSEMBL Gene Tree for G6PD (if available)
TreeFam Gene Tree for G6PD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for G6PD gene

H6PD²

G6PD for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Polymorphism: The sequence shown is that of variant B, the most common variant

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76723693^1,2	C,F,	pathogenic	153761240(-)	`GTACCT/CGGACG`	4	/P /L	mis¹		1		NA	4544
rs137852330^1,2	C	pathogenic	153762605(-)	`TCTACC/TGCATC`	4	R C	mis¹		0	--	--	--	--
rs1050829^1,2	C,F,A,H,	pathogenic	153763492(-)	`CATNGA/GATGCC`	4	N D	mis¹ ese³		17		MN NS NA WA	6364
rs1050828^1,2	C,F,H,	pathogenic	153764217(-)	`TCATCG/ATGGGC`	4	/M /V	mis¹		26		MN NS EA NA	7898
rs72554665^1,2	C,	untested	153760484(-)	`GCTCCC/G/TTGAGG`	6	P R L	mis¹		0	--	--	--	--
rs137852328^1,2	C	untested	153762340(-)	`GAACCA/G/TGGACA`	6	Q R L	mis¹		0	--	--	--	--
rs137852332^1,2	C	untested	153762604(-)	`CTACCA/C/GCATCG`	6	H P R	mis¹		0	--	--	--	--
rs72554664^1,2	C	other	153760472(-)	`CTGGCA/GTATTT`	4	H R	mis¹		0	--	--	--	--
rs137852316^1,2	C	other	153760891(-)	`GATCCA/GCGTGC`	4	H R	mis¹		0	--	--	--	--
rs137852342^1,2	C	other	153761184(-)	`TCGTCC/TTCTAT`	4	L F	mis¹		1		NA	4534

HapMap Linkage Disequilibrium report for G6PD (153759606 - 153775787 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for G6PD: --
Human Gene Mutation Database (HGMD): G6PD

Locus Specific Mutation Databases (LSDB): G6PD

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing G6PD

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

G6PD for disorders About GeneDecksing

OMIM gene information: 305900 OMIM disorders: --

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Defects in G6PD are the cause of chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]. Deficiency of

G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been

endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though

essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of

G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of

CNSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal;

class-III have an activity of 10% to 60% of normal; class-IV have near normal activity

20/198 diseases for G6PD (see all 198): About MalaCards

hemolytic anemia neonatal jaundice jaundice blood group incompatibility

anemia lysinuric protein intolerance pyruvate kinase deficiency manic-depressive illness

alpha 1-antitrypsin deficiency glucosephosphate isomerase deficiency congenital nonspherocytic hemolytic anemia adult-onset still's disease

glutathione synthetase deficiency diamond-blackfan anemia blackwater fever retinal vein occlusion

hemoglobin s beta-thalassemia glucosephosphate dehydrogenase deficiency beta thalassemia central retinal vein occlusion

2 diseases from the University of Copenhagen DISEASES database for G6PD:

Glucosephosphate dehydrogenase deficiency Anemia

10/99 Novoseek disease relationships for G6PD gene (see all 99) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
g6pd deficiency	99.3	2782	12971572 (11), 11903742 (10), 19789650 (9), 18582416 (9) (see all 99)
favism	94	58	8991858 (3), 15957246 (2), 16513531 (2), 10571945 (2) (see all 29)
enzymopathy	92.4	86	8813716 (2), 2386513 (1), 2393028 (1), 8235390 (1) (see all 48)
jaundice neonatal	90.8	156	11317924 (6), 1468858 (5), 16255851 (4), 19422023 (3) (see all 70)
kernicterus	88.2	71	12729287 (4), 20113600 (3), 17483701 (3), 12208096 (2) (see all 38)
anemia hemolytic	87.8	196	19494543 (4), 15645702 (3), 9332310 (3), 18677765 (3) (see all 99)
hemolysis	87	294	20118060 (4), 11783956 (4), 8703811 (3), 16603783 (3) (see all 99)
enzyme deficiency	84.2	60	8579339 (1), 8639919 (1), 12737943 (1), 2386511 (1) (see all 41)
hyperbilirubinemia	83	134	20051781 (4), 10091404 (3), 17483701 (3), 12368976 (3) (see all 63)
blackwater fever	75.4	3	7859663 (1), 9402415 (1), 19589177 (1)

Genatlas disease: G6PD

anemia,non spherocytic,congenital,hemolytic anemia,favism

Genetic Association Database (GAD): G6PD
Human Genome Epidemiology (HuGE) Navigator: G6PD (90 documents)

Export disorders for G6PD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for G6PD gene, integrated from 9 sources (see all 1643):
(articles sorted by number of sources associating them with G6PD)

Utopia: connect your pdf to the dynamic
world of online information

A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. (PubMed id 7959695)^{1, 2, 4} Filosa S....Martini G. (1994)
Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. (PubMed id 3012556)^{1, 2, 3} Takizawa T.... Yoshida A. (1986)
Structural analysis of the X-linked gene encoding human glucose 6- phosphate dehydrogenase. (PubMed id 2428611)^{1, 2, 3} Martini G.... Persico M.G. (1986)
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. (PubMed id 11793482)^{1, 4, 9} Nuchprayoon I....Nuchprayoon S. (2002)
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. (PubMed id 12497642)^{1, 4, 9} Ainoon O....Hamidah N.H. (2003)
Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. (PubMed id 8193373)^{1, 2, 9} Hirono A.... Kubota K. (1994)
A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. (PubMed id 8533762)^{1, 2, 9} Kaeda J.S....Mason P.J. (1995)
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population. (PubMed id 16136268)^{1, 4, 9} Matsuoka H....Kawamoto F. (2005)
Glucose-6-phosphate dehydrogenase mutations and haplotypes in Mexican Mestizos. (PubMed id 11042039)^{1, 4, 9} Arambula E....Vaca G. (2000)
Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene. (PubMed id 12696079)^{1, 4, 9} Menounos P.G....Patrinos G.P. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2539	HGNC: 4057	AceView: G6PD	Ensembl:ENSG00000160211	euGenes: HUgn2539
ECgene: G6PD	Kegg: 2539	H-InvDB: G6PD

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for G6PD	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for G6PD	Genetics and Cytogenetics in Oncology and Haematology
G6PD	http://rialto.com/g6pd/
G6PDdb	http://www.bioinf.org.uk/g6pd/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/G6PD
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD

Intellectual Property for G6PD gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for G6PD gene:
Search GeneIP for patents involving G6PD

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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G6PD Gene

glucose-6-phosphate dehydrogenase

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Senile cataract
WILSON DISEASE
Autoimmune hemolytic anemia
Polycythemia
Hemolytic disease
Tumor Lysis Syndrome
Phenylketonurias
Parasitemia
Prematurity
Malaria
Anemia Hemolytic
HEMOLYSIS INTRAVASCULAR
allergy
Enzymopathy
pyruvate kinase deficiency
Atherosclerosis
Liver diseases
Iron deficiency anemia
Breast Cancer
Rh Incompatibility
Jaundice Neonatal
alpha-Thalassemia
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HEMOLYTIC REACTION
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hereditary nonspherocytic hemolytic anemia
HEPATITIS ACUTE VIRAL
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Granulomatous Disease Chronic
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Leishmaniasis Cutaneous
Macrocytosis
LACTASE DEFICIENCY
H DISEASE
Congenital hypothyroidism
HEMATOLOGIC DISORDERS
iron deficiency
Malaria Falciparum
Jaundice Hemolytic
SICKLE CELL DISEASE
Malaria Vivax
Anemia
Hypertrophy
GILBERTS SYNDROME
ANEMIA SEVERE
Renal Failure
Elliptocytosis Hereditary
Kernicterus
Blackwater Fever
Blood Group Incompatibility
Mediterranean Spotted Fever
metabolic disorder
Lymphoblastic Leukemia Acute
Renal Failure Acute
Viral hepatitis
virus infection
Hemoglobinuria
ENZYME DEFICIENCY
Paroxysmal Hemoglobinuria Nocturnal
G6PD DEFICIENCY
Color Blindness
Autoimmune Diseases
Thalassemia trait
Favism
Glioma
Hepatitis A Acute
Thalassemia
Osteoarthritis
Myeloid Leukemia Chronic
Other hemoglobinopathies
Methemoglobinemia
Cataract
Alcoholism
beta-Thalassemia
HEART FAILURE
Polycythemia Vera
Erythroblastosis
LYSINURIC PROTEIN INTOLERANCE
Respiratory disease
Hemoglobinopathies
Diabetic cataract
Homocystinuria
Methemoglobinemia acquired
associated conditions
Vascular Diseases
Cerebral Ischemia
Hyperbilirubinemia
Thrombocythemia Essential
genetic disorder
Vitiligo
Sickle Cell Trait
Cardiac Arrest
Anemia Hemolytic Congenital
Thromboembolism

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G6PD Gene

glucose-6-phosphate dehydrogenase

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for G6PD gene

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